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Emerging topics in FXTAS / D. A. HALL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Emerging topics in FXTAS Type de document : Texte imprimé et/ou numérique Auteurs : D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur Article en page(s) : p.31 Langues : Anglais (eng) Mots-clés : Ataxia Fmr1 Fxtas Fragile X Premutation Tremor Index. décimale : PER Périodiques Résumé : This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013. En ligne : http://dx.doi.org/10.1186/1866-1955-6-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.31[article] Emerging topics in FXTAS [Texte imprimé et/ou numérique] / D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur . - p.31.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.31
Mots-clés : Ataxia Fmr1 Fxtas Fragile X Premutation Tremor Index. décimale : PER Périodiques Résumé : This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013. En ligne : http://dx.doi.org/10.1186/1866-1955-6-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation / L. M. WONG in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation Type de document : Texte imprimé et/ou numérique Auteurs : L. M. WONG, Auteur ; N. J. GOODRICH-HUNSAKER, Auteur ; Y. A. MCLENNAN, Auteur ; F. TASSONE, Auteur ; S. M. RIVERA, Auteur ; T. J. SIMON, Auteur Article en page(s) : p.45 Langues : Anglais (eng) Mots-clés : Cueing Endogenous Exogenous FMR1 gene Fxtas Fragile X Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndrome (FXTAS)) often accompanied by cognitive decline. Several broad domains are implicated as core systems of dysfunction in fXPCs, including perceptual processing of spatial information, orienting of attention to space, and inhibiting attention to irrelevant distractors. We tested whether orienting of spatial attention is impaired in fXPCs. METHODS: Participants were fXPCs or healthy controls (HCs) asymptomatic for FXTAS. In experiment 1, they were male and female children and adults (aged 7-45 years). They oriented attention in response to volitional (endogenous) and reflexive (exogenous) cues. In experiment 2, the participants were men (aged 18-48 years). They oriented attention in an endogenous cueing task that manipulated the amount of information in the cue. RESULTS: In women, fXPCs exhibited slower reaction times than HCs in both the endogenous and exogenous conditions. In men, fXPCs exhibited slower reaction times than HCs in the exogenous condition and in the challenging endogenous cueing task with probabilistic cues. In children, fXPCs did not differ from HCs. CONCLUSIONS: Because adult fXPCs were slower even when controlling for psychomotor speed, results support the interpretation that a core dysfunction in fXPCs is the allocation of spatial attention, while perceptual processing and attention orienting are intact. These findings indicate the importance of considering age and sex when interpreting and generalizing studies of fXPCs. En ligne : http://dx.doi.org/10.1186/1866-1955-6-45 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.45[article] A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation [Texte imprimé et/ou numérique] / L. M. WONG, Auteur ; N. J. GOODRICH-HUNSAKER, Auteur ; Y. A. MCLENNAN, Auteur ; F. TASSONE, Auteur ; S. M. RIVERA, Auteur ; T. J. SIMON, Auteur . - p.45.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.45
Mots-clés : Cueing Endogenous Exogenous FMR1 gene Fxtas Fragile X Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndrome (FXTAS)) often accompanied by cognitive decline. Several broad domains are implicated as core systems of dysfunction in fXPCs, including perceptual processing of spatial information, orienting of attention to space, and inhibiting attention to irrelevant distractors. We tested whether orienting of spatial attention is impaired in fXPCs. METHODS: Participants were fXPCs or healthy controls (HCs) asymptomatic for FXTAS. In experiment 1, they were male and female children and adults (aged 7-45 years). They oriented attention in response to volitional (endogenous) and reflexive (exogenous) cues. In experiment 2, the participants were men (aged 18-48 years). They oriented attention in an endogenous cueing task that manipulated the amount of information in the cue. RESULTS: In women, fXPCs exhibited slower reaction times than HCs in both the endogenous and exogenous conditions. In men, fXPCs exhibited slower reaction times than HCs in the exogenous condition and in the challenging endogenous cueing task with probabilistic cues. In children, fXPCs did not differ from HCs. CONCLUSIONS: Because adult fXPCs were slower even when controlling for psychomotor speed, results support the interpretation that a core dysfunction in fXPCs is the allocation of spatial attention, while perceptual processing and attention orienting are intact. These findings indicate the importance of considering age and sex when interpreting and generalizing studies of fXPCs. En ligne : http://dx.doi.org/10.1186/1866-1955-6-45 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome / Robert F. BERMAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Robert F. BERMAN, Auteur ; R. A. BUIJSEN, Auteur ; K. USDIN, Auteur ; E. PINTADO, Auteur ; F. KOOY, Auteur ; D. PRETTO, Auteur ; I. N. PESSAH, Auteur ; D. L. NELSON, Auteur ; Z. ZALEWSKI, Auteur ; N. CHARLET-BERGEURAND, Auteur ; R. WILLEMSEN, Auteur ; R. K. HUKEMA, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : CGG trinucleotide repeat Fmr1 Fmrp Fxtas Fragile X premutation Intranuclear inclusions Mouse models RNA toxicity Index. décimale : PER Périodiques Résumé : Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. En ligne : http://dx.doi.org/10.1186/1866-1955-6-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.25[article] Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome [Texte imprimé et/ou numérique] / Robert F. BERMAN, Auteur ; R. A. BUIJSEN, Auteur ; K. USDIN, Auteur ; E. PINTADO, Auteur ; F. KOOY, Auteur ; D. PRETTO, Auteur ; I. N. PESSAH, Auteur ; D. L. NELSON, Auteur ; Z. ZALEWSKI, Auteur ; N. CHARLET-BERGEURAND, Auteur ; R. WILLEMSEN, Auteur ; R. K. HUKEMA, Auteur . - p.25.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.25
Mots-clés : CGG trinucleotide repeat Fmr1 Fmrp Fxtas Fragile X premutation Intranuclear inclusions Mouse models RNA toxicity Index. décimale : PER Périodiques Résumé : Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. En ligne : http://dx.doi.org/10.1186/1866-1955-6-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 The cognitive neuropsychological phenotype of carriers of the FMR1 premutation / J. GRIGSBY in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : The cognitive neuropsychological phenotype of carriers of the FMR1 premutation Type de document : Texte imprimé et/ou numérique Auteurs : J. GRIGSBY, Auteur ; Kim CORNISH, Auteur ; D. HOCKING, Auteur ; C. KRAAN, Auteur ; J. M. OLICHNEY, Auteur ; S. M. RIVERA, Auteur ; A. SCHNEIDER, Auteur ; S. SHERMAN, Auteur ; J. Y. WANG, Auteur ; J. C. YANG, Auteur Article en page(s) : p.28 Langues : Anglais (eng) Mots-clés : Cognition disorders Executive function Fmr1 Fxtas Fragile X Fragile X premutation Fragile X-associated tremor/ataxia syndrome Index. décimale : PER Périodiques Résumé : The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious aspect of the phenotype is the movement disorder that gives FXTAS its name, the disorder is also accompanied by progressive cognitive impairment. In this review, we address the cognitive neuropsychological and neurophysiological phenotype for males and females with FXTAS, and for male and female unaffected carriers. Despite differences in penetrance and expression, the cognitive features of the disorder appear similar for both genders, with impairment of executive functioning, working memory, and information processing the most prominent. Deficits in these functional systems may be largely responsible for impairment on other measures, including tests of general intelligence and declarative learning. FXTAS is to a large extent a white matter disease, and the cognitive phenotypes observed are consistent with what some have described as white matter dementia, in contrast to the impaired cortical functioning more characteristic of Alzheimer's disease and related disorders. Although some degree of impaired executive functioning appears to be ubiquitous among persons with FXTAS, the data suggest that only a subset of unaffected carriers of the premutation - both female and male - demonstrate such deficits, which typically are mild. The best-studied phenotype is that of males with FXTAS. The manifestations of cognitive impairment among asymptomatic male carriers, and among women with and without FXTAS, are less well understood, but have come under increased scrutiny. En ligne : http://dx.doi.org/10.1186/1866-1955-6-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.28[article] The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [Texte imprimé et/ou numérique] / J. GRIGSBY, Auteur ; Kim CORNISH, Auteur ; D. HOCKING, Auteur ; C. KRAAN, Auteur ; J. M. OLICHNEY, Auteur ; S. M. RIVERA, Auteur ; A. SCHNEIDER, Auteur ; S. SHERMAN, Auteur ; J. Y. WANG, Auteur ; J. C. YANG, Auteur . - p.28.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.28
Mots-clés : Cognition disorders Executive function Fmr1 Fxtas Fragile X Fragile X premutation Fragile X-associated tremor/ataxia syndrome Index. décimale : PER Périodiques Résumé : The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious aspect of the phenotype is the movement disorder that gives FXTAS its name, the disorder is also accompanied by progressive cognitive impairment. In this review, we address the cognitive neuropsychological and neurophysiological phenotype for males and females with FXTAS, and for male and female unaffected carriers. Despite differences in penetrance and expression, the cognitive features of the disorder appear similar for both genders, with impairment of executive functioning, working memory, and information processing the most prominent. Deficits in these functional systems may be largely responsible for impairment on other measures, including tests of general intelligence and declarative learning. FXTAS is to a large extent a white matter disease, and the cognitive phenotypes observed are consistent with what some have described as white matter dementia, in contrast to the impaired cortical functioning more characteristic of Alzheimer's disease and related disorders. Although some degree of impaired executive functioning appears to be ubiquitous among persons with FXTAS, the data suggest that only a subset of unaffected carriers of the premutation - both female and male - demonstrate such deficits, which typically are mild. The best-studied phenotype is that of males with FXTAS. The manifestations of cognitive impairment among asymptomatic male carriers, and among women with and without FXTAS, are less well understood, but have come under increased scrutiny. En ligne : http://dx.doi.org/10.1186/1866-1955-6-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346